ORPHA:98098
Autosomal recessive degenerative and progressive cerebellar ataxia
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive degenerative and progressive cerebellar ataxia | |
| fr | Ataxie cérébelleuse dégénérative et progressive autosomique récessive | |
| de | Ataxie, zerebelläre, autosomal-rezessive, degenerative und progressive | |
| es | Ataxia cerebelosa degenerativa y progresiva autosómica recesiva | |
| it | Atassia cerebellare degenerativa e progressiva, autosomica recessiva | |
| nl | Autosomaal recessieve degeneratieve en progressieve cerebellaire ataxie | |
| pt | Ataxia cerebelosa degenerativa e progressiva autossómica recessiva | |
| pl | Autosomalna recesywna zwyrodnieniowa i postępująca ataksja możdżkowa | |
| cs | Autozomálně recesivní degenerativní a progresivní cerebelární ataxie | |
| uk | Аутосомно-рецесивна дегенеративна та прогресуюча мозочкова атаксія | |
| zh | 常染色体隐性遗传退行性进行性小脑共济失调 | |
| tr | Otozomal resesif dejeneratif ve ilerleyici serebellar ataksi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020046 | E | validated | |
| UMLS | C5681515 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1172Autosomal recessive cerebellar ataxia
rare genetic diseases; rare neurological diseases
Children (8):
- ORPHA:694922Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome
- ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome
- ORPHA:1177Early-onset cerebellar ataxia with retained tendon reflexes
- ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- ORPHA:95Friedreich ataxia
- ORPHA:1186Infantile-onset spinocerebellar ataxia
- ORPHA:559Marinesco-Sjögren syndrome
- ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98098
- This record as JSON: /data/d/98098.json